Disease Information for Fucosidosis (Anderson-Fabry): Disease Mechanism & Classification

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Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/22 mutations of gene locus identified
Pathophysiology/Alpha-1-fucosidase deficiency
Pathophysiology/Alpha-L-fucosidase deficiency
Pathophysiology/Fucose accumulation/tissue/effect
Pathophysiology/Fucose-glycosphinglipids/glycoprotein accumulate
Pathophysiology/Gene locus 1p36
Pathophysiology/Gene locus 1p36.1
Pathophysiology/Gene locus 1p36.1-p34.1
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene locus Chromosome 1 (1p24)
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Juvenile disease milder than infantile
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Nonsense mutations seen
Pathophysiology/Specific lipid accumulation tissues
Pathophysiology/Subset juvenile form/variant occurs
Pathophysiology/salivary gland involvement
Pathophysiology/Hereditary disease renal effect
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Disease with many subtypes (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Genetic expressivity variable (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Lipidosis/storage disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Storage disorder (ex)
PROCESS/Two/multiple subsets/disease pattern
PROCESS/Developmental degenerative neurological disorder (ex)
PROCESS/Dystostosis/craniofacial (ex)
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